PDB ID 1DEV     CHAIN A
Protein name MAD (mothers against decapentaplegic, Drosophila) homolog 2
Uniprot Accession Q15796
The number of similar proteins 20
The number of binding states 6
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1DEV (CHAIN: A)
1 O95405  
2 Monomeric state
3 P12755  
4 P0AA25  
5 Q15796   Q15796  
6 Q15796   Q15796   Q9Y2U8  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   LDLQPVTYSE   PAFWCSIAYY   ELNQRVGETF   HASQPSLTVD   GFTDPSNSER   50
51   FCLGLLSNVN   RNATVEMTRR   HIGRGVRLYY   IGGEVFAECL   SDSAIFVQSP   100
101   NCNQRYGWHP   ATVCKIPPGC   NLKIFNNQEF   AALLAQSVNQ   GFEAVYQLTR   150
151   MCTIRMSFVK   GWGAEYRRQT   VTSTPCWIEL   HLNGPLQWLD   KVLTQM   200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
264_GLN TER ClinVar
chr18:45375053 		rs1914769460
Likely pathogenic - SMAD2-related disorders [-]
268_TYR SER ClinVar
chr15:67473597 		-
Likely pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
274_TRP CYS VAR_086574 -
LP/P - Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657]
274_TRP CYS ClinVar
chr18:45375021 		rs367537998
Pathogenic - not provided|Congenital heart defects, multiple types, 8, with or without heterotaxy [MedGen:CN517202|MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657]
274_TRP TER ClinVar
chr15:67473616 		-
Pathogenic - not provided [MedGen:CN517202]
274_TRP TER ClinVar
chr15:67473615 		-
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
278_ALA VAL VAR_086575 -
US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
280_TYR TER ClinVar
chr15:67473634 		-
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
281_GLU LYS ClinVar
chr15:67473635 		rs387906853
Likely pathogenic - Aneurysm-osteoarthritis syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
285_ARG CYS 8.3kJPN
chr15:67473647 		rs886039137
- 0.0001 -
287_GLY ARG ClinVar
chr15:67473653 		rs863223737
Pathogenic/Likely pathogenic - not provided|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
287_GLY ARG ClinVar
chr15:67473653 		rs863223737
Pathogenic/Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
294_GLN TER ClinVar
chr15:67473674 		rs1566999458
Pathogenic/Likely pathogenic - not provided|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MedGen:CN078214|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
300_ASP VAL VAR_036473 -
US - A colorectal cancer sample
300_ASP HIS ClinVar
chr15:67473692 		rs863223738
Likely pathogenic - not provided|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
302_PHE LEU ClinVar
chr15:67473700 		rs1250669634
Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
303_THR ILE ClinVar
chr15:67473702 		rs387906851
Pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
303_THR ARG ClinVar
chr18:45374935 		rs2144300077
Likely pathogenic - Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
304_ASP VAL ClinVar
chr15:67473705 		rs2140314210
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
305_PRO ALA ClinVar
chr15:67473707 		rs863223739
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
308_SER TER ClinVar
chr15:67473717 		rs753486471
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
310_ARG CYS ClinVar
chr15:67473722 		rs794727798
Pathogenic/Likely pathogenic - not provided|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
310_ARG HIS ClinVar
chr15:67473723 		rs863223740
Pathogenic/Likely pathogenic - not provided|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
312_CYS SER VAR_086576 -
LP/P - Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657]
312_CYS SER ClinVar
chr18:45374908 		rs797044882
Pathogenic - Inborn genetic diseases|Congenital heart defects, multiple types, 8, with or without heterotaxy [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0859213,MedGen:C5562042,OMIM:619657]
316_LEU PRO ClinVar
chr15:67473741 		rs863223741
Likely pathogenic - not provided [MedGen:CN517202]
318_ASN LYS VAR_086577 -
US - -
321_ARG LYS ClinVar
chr15:67473756 		rs387906852
Pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
325_VAL GLU ClinVar
chr15:67473768 		rs1566999601
Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
326_GLU GLY ClinVar
chr15:67473771 		rs1566999610
Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
329_ARG TRP ClinVar
chr15:67473779 		rs387906850
Pathogenic - Aneurysm-osteoarthritis syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249]
329_ARG GLN ClinVar
chr15:67473780 		rs730880214
Pathogenic/Likely pathogenic - Loeys-Dietz syndrome|not provided|Connective tissue disorder|Aneurysm-osteoarthritis syndrome|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
329_ARG GLY ClinVar
chr18:45374858 		rs2144299416
Pathogenic - not provided [MedGen:C3661900]
333_GLY TER ClinVar
chr15:67473791 		rs730880215
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
333_GLY VAL ClinVar
chr15:67477065 		rs1555413991
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
339_TYR TER ClinVar
chr15:67477084 		-
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
348_GLU TER ClinVar
chr15:67477109 		-
Likely pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
353_SER ARG ClinVar
chr18:45372110 		-
Likely pathogenic - Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
357_VAL ILE 8.3kJPN
chr15:67477136 		rs1468779374
- 0.0001 -
358_GLN TER ClinVar
chr15:67477139 		rs1595960447
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
361_ASN THR VAR_086578 -
US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
361_ASN THR ClinVar
chr18:45372087 		rs2144290354
Pathogenic - Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
364_GLN TER ClinVar
chr15:67477157 		rs1963178887
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
365_ARG CYS 8.3kJPN
chr15:67477160 		rs967072552
- 0.0001 -
373_VAL PHE ClinVar
chr15:67477184 		rs1320208623
Likely pathogenic - Aneurysm-osteoarthritis syndrome|Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
379_GLY TER ClinVar
chr15:67477202 		rs1567002115
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
388_GLN ARG VAR_086579 -
US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
397_SER TYR VAR_086580 -
US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
403_GLU TER ClinVar
chr15:67479774 		rs387906856
Pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
406_TYR CYS ClinVar
chr18:45371774 		rs2144287574
Pathogenic - not provided [MedGen:C3661900]
407_GLN LEU ClinVar
chr15:67479787 		rs1595962708
Likely pathogenic - Aneurysm-osteoarthritis syndrome [MONDO:MONDO:0013426,MedGen:C3151087,OMIM:613795,Orphanet:284984]
410_ARG TER ClinVar
chr15:67479795 		rs757106110
Pathogenic - not provided|Familial thoracic aortic aneurysm and aortic dissection [MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
422_TRP TER ClinVar
chr15:67479832 		-
Pathogenic/Likely pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
423_GLY TER ClinVar
chr15:67479834 		rs2140323765
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
427_ARG THR ClinVar
chr15:67479847 		rs886038770
Likely pathogenic - Cardiovascular phenotype [MedGen:CN230736]
435_PRO SER 8.3kJPN
chr18:45368299 		rs1236865589
- 0.0001 -
440_LEU ARG VAR_011377 -
US - A colorectal carcinoma sample
442_LEU ARG ClinVar
chr18:45368277 		-
Pathogenic - not provided [MedGen:C3661900]
445_PRO HIS VAR_011378 -
US - A colorectal carcinoma sample
448_TRP TER ClinVar
chr15:67482813 		rs2140327860
Pathogenic - Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
449_LEU SER VAR_086581 -
US - Loeys-Dietz syndrome 6 (LDS6) [MIM:619656]
449_LEU SER ClinVar
chr18:45368256 		rs2144276501
Pathogenic - Loeys-Dietz syndrome 6 [MONDO:MONDO:0030500,MedGen:C5562041,OMIM:619656]
450_ASP GLU VAR_011379 -
US - A colorectal carcinoma sample
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.